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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tbptm1Xjl
targeted mutation 1, Xiao-Jiang Li
MGI:5644074
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Tbptm1Xjl/Tbp+
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S/SvEv * C57BL/6 * CBA MGI:5693885
cn2
Tbptm1Xjl/Tbptm1Xjl
Tg(Nes-cre)1Kln/?
involves: 129S/SvEv * C57BL/6 * SJL MGI:5691953


Genotype
MGI:5693885
cn1
Allelic
Composition
Tbptm1Xjl/Tbp+
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S/SvEv * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbptm1Xjl mutation (0 available); any Tbp mutation (10 available)
Tg(CAG-cre/Esr1*)5Amc mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice injected with tamoxifen at 14 months of age, but not at 3 months, take longer to walk through a balance beam
• mice injected with tamoxifen show worse rotarod performance; older mice injected with tamoxifen stay on the rod for a shorter time than younger mice injected with tamoxifen
• mice injected with tamoxifen exhibit abnormal gait which is most pronounced in mice that are injected at 14 months of age
• mice injected with tamoxifen exhibit a decrease in stride length

growth/size/body
• mice injected with tamoxifen for 5 days exhibit reduced body weight
• mice injected with tamoxifen at older ages (14 months) show earlier weight loss and lose more weight than those injected at younger ages (3 and 9 months)

mortality/aging
• some 14 month old mice die starting from 40 days after tamoxifen injection, however, none of the 3 month old mice die within 3 months after injection

nervous system
• mice injected with tamoxifen at 14 months of age show severe Purkinje neuron loss after 2 months of injection, while mice injected at 9 months show a modest level of degeneration, and mice injected at 3 months of age show largely intact Purkinje neurons
• dendritic branches are decreased in mice injected with tamoxifen at 14 months of age
• molecular layer thickness is decreased in mice injected with tamoxifen at 14 months of age

skeleton
• hunch-back appearance of 3, 9, and 14 month old mice is seen at 130, 75, and 50 days after tamoxifen injection

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 17 DOID:0050967 OMIM:607136
J:213011




Genotype
MGI:5691953
cn2
Allelic
Composition
Tbptm1Xjl/Tbptm1Xjl
Tg(Nes-cre)1Kln/?
Genetic
Background
involves: 129S/SvEv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tbptm1Xjl mutation (0 available); any Tbp mutation (10 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• significantly decreased rotarod performance in females older than 12 months
• by 22 months
• night time locomotor function reduced in older animals
• reduced nest building in mice of both sexes

growth/size/body
• by 22 months
• reduced weight gain starting around 12 months
• more prominent in males

nervous system
• degeneration of cerebellar cells, particularly Purkinje cells
• cell loss observed at 16 and 23 months but not at 3 months
• losses observed at higher magnifications at 12 months





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory